Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation-Reference-Cited by-同舟云学术

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Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation

Published:2007-07 Issue:3 Volume:16 Page:163-166
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Zechi-Ceide Roseli Maria,Guion-Almeida Maria Leine,de Oliveira Rodini Elaine Sbroggio,Jesus Oliveira Nélio Alessandro,Passos-Bueno Maria Rita

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference13 articles.

1. Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene;Ghassibé;J Med Genet,2004

2. Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population;Ghassibé;Eur J Hum Genet,2005

3. Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family;Item;Int J Mol Med,2005

4. Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34;Koillinen;Eur J Hum Genet,2001

5. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes;Kondo;Nat Genet,2002

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04

2. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;2023-12-04

3. Hidrocefalia Congénita: Síndrome de Gómez-López-Hernández, un síndrome subdiagnosticado. Caso clínico;Revista chilena de pediatría;2018-02

4. Coding Region of IRF6 Gene May Not Be Causal for Van Der Woude Syndrome in Cases from India;The Cleft Palate-Craniofacial Journal;2009-09

5. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome;Genetics in Medicine;2009-04

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